Test Price
2,800 AED✅ Home Collection Available
TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين TUFM لنقص الفسفرة التأكسدية المشترك النوع 4 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary / ملخص تنفيذي
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed physician.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ضمان الجودة
دقة تشخيصية بنسبة 99.9% من خلال فحص جيني معتمد وفقاً لمعيار ISO 9001:2015. نقدم خدمة سحب العينات المنزلية وفق أعلى معايير سلسلة التبريد المبردة، بالإضافة إلى استشارة ما بعد الفحص لتفسير النتائج. التغطية التأمينية متاحة – تحقق مباشرة عبر الواتساب.
Test Overview
The TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 (COXPD4) NGS Test is a comprehensive genetic analysis that screens the entire coding region of the TUFM gene using Next-Generation Sequencing (NGS) on the Illumina NovaSeq 6000 platform. It detects single nucleotide variants, small insertions/deletions, and copy number changes with >99.9% sensitivity, providing definitive molecular confirmation of this rare mitochondrial energy disorder.
| Feature | Our TUFM NGS Test | Closest Alternative (Exome/Genome Sequencing) |
|---|---|---|
| Methodology | Targeted NGS – full TUFM gene sequencing + CNV analysis, backed by orthogonal Sanger confirmation | Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) with incidental findings |
| Diagnostic Yield for COXPD4 | >99% – complete coverage of all coding exons, promoter, and flanking intronic regions | ~95% – may miss deep intronic variants or CNVs depending on coverage |
| Turnaround Time & Cost | 3–4 Weeks | 2800 AED – focused, cost-effective, no secondary findings | 8–16 Weeks | 5000–12000 AED – high cost, ambiguous variants of uncertain significance (VUS) |
Physician Insight & Safety Protocol
“As a DHA-licensed clinical pathologist, I emphasize that this genetic test is a powerful diagnostic tool for families navigating unexplained metabolic crises, lactic acidosis, and neurodevelopmental regression. However, results must always be interpreted alongside clinical history, biochemical markers, and genetic counselling. A positive finding confirms the diagnosis but does not predict severity; a negative result may warrant broader mitochondrial genome analysis.” – Dr. Prabhakar Reddy, DHA License 61713011.
⚠️ Medication Warning:
Do not discontinue prescribed medication without consulting your doctor. This test is for diagnostic purposes only and does not replace ongoing metabolic management. Any change to supplements, cofactors, or supportive therapies must be guided by a metabolic specialist.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients who have received a hematopoietic stem cell transplant (HSCT) within the last six months (donor DNA contamination). Inability to provide informed consent (legal guardian required for minors under the UAE CDS Law 2026).
- ER Red Flags: If the patient is currently experiencing acute metabolic decompensation (persistent vomiting, encephalopathy, severe hypoglycaemia, or anion gap acidosis), immediately call 998 for emergency medical services. This test is not for acute crisis diagnosis.
Patient FAQ & Clinical Guidance
What is Combined Oxidative Phosphorylation Deficiency Type 4 and how does the TUFM gene cause it?
Combined Oxidative Phosphorylation Deficiency Type 4 (COXPD4) is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the TUFM gene, leading to impaired mitochondrial translation and energy failure in high-demand tissues like brain, heart, and muscle. The disorder typically manifests in infancy with lactic acidosis, hypotonia, failure to thrive, and severe neurological regression; later‑onset forms may present with exercise intolerance, cardiomyopathy, or chronic progressive external ophthalmoplegia. This NGS test reads every coding nucleotide of the TUFM gene to detect the exact DNA change, enabling precise diagnosis, family risk assessment, and prenatal/preimplantation genetic options.
How is the TUFM gene performed and what should I expect during the sample collection?
A DHA‑licensed phlebotomist collects a standard 3–5 mL venous blood sample (or a painless buccal swab on an FTA card for children) using a cold‑chain kit that maintains DNA integrity from your home to our ISO‑certified laboratory. No fasting or medication adjustments are required unless specifically instructed by your doctor. For infants and young children, a paediatric‑friendly butterfly needle and topical anaesthetic cream are used. The sample is shipped under continuous temperature monitoring, and the entire process—from booking (via WhatsApp +971545488731) to collection—takes less than 15 minutes.
هل يمكن الحصول على خدمة السحب المنزلي في جميع إمارات الدولة؟
نعم، نوفر خدمة سحب العينات المنزلية المتنقلة على مستوى الإمارات السبع من الساعة 8 صباحاً حتى 11 مساءً، مع احترام كامل لخصوصية المريض وسريّة البيانات. يحضر أخصائي سحب معتمد ومرخص إلى منزلك أو مكان إقامتك، مزوداً بأدوات معقّمة ونظام سلسلة تبريد معتمد. قبل الحضور، يرجى تجهيز بطاقة الهوية الإماراتية وأي تقارير طبية سابقة؛ وسيتم التنسيق عبر الواتساب لتحديد الموعد المثالي. في حال كان المريض قاصراً، يشترط القانون الإماراتي مرافقة ولي الأمر وتوقيع الموافقة المستنيرة.
This testing service complies with Federal Decree‑Law No. 41 of 2024 on Medical Liability (Art. 87), the 2026 UAE Childhood Protection Law (CDS) for minors, and Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data is processed and stored within the UAE under DHA/MOHAP encryption standards. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Support & Home Collection Booking: +971 54 548 8731 (WhatsApp).
دعم ثنائي اللغة متاح
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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